2019 International Congress

Monday, September 23, 2019

1:45pm-3:15pm

A case report of two siblings Aicardi-Goutières Syndrome type 2

C. Fujiwara Murakami, E. Nakagawa, A. Meira, F. Germiniani, E. Pereira, H. Ghizoni Teive (Curitiba, Brazil)

Rare Genetic and Metabolic Diseases  ·  Les Muses Terrace, Level 3

1:45pm-3:15pm

A case report of Wilson Disease in a Kyrgyz teenager

A. Jusupova (Bishkek, Kyrgyzstan)

Genetics  ·  Les Muses Terrace, Level 3

1:45pm-3:15pm

A coding VPS13C haplotype is associated with reduced risk for Parkinson disease

U. Rudakou, J. Ruskey, L. Krohn, S. Laurent, D. Spiegelman, L. Greenbaum, G. Yahalom, A. Desautels, J. Montplaisir, S. Fahn, C. Waters, L. Levy, C. Kehoe, S. Narayan, Y. Dauvilliers, N. Dupré, S. Hassin-Baer, R. Alcalay, G. Rouleau, E. Fon, Z. Gan-Or (Montreal, QC, Canada)

Genetics  ·  Les Muses Terrace, Level 3

1:45pm-3:15pm

A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent

S. Das, S. Danda, M. Thomas, S. Yoganathan, V. Srivastava, S. Cleave A, A. Barney (Vellore, India)

Ataxia  ·  Les Muses, Level 3

1:45pm-3:15pm

A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy

S. Polet, L. Koens, M. van Egmond, D. Sival, E. Brusse, M. Willemsen, R. Lambrechts, O. Brouwer, G. Drost, H. Kremer, J. de Vries, M. de Koning-Tijssen, T. de Koning (Groningen, Netherlands)

Rare Genetic and Metabolic Diseases  ·  Les Muses Terrace, Level 3

1:45pm-3:15pm

A family of Phospholipase A2-associated neurodegeneration presented as complicated hereditary spastic paraplegia

MC. Wu, MY. Lan, JW. Li, YF. Chen, YY. Chang (Kaohsiung, Taiwan)

Genetics  ·  Les Muses Terrace, Level 3

1:45pm-3:15pm

A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel/Crohn’s disease

A. Shadrin, A. Sreelatha, S. Mucha, C. Blauwendraat, O. Frei, D. Ellinghaus, A. Franke, G. Wenning, A. Singleton, T. Gasser, H. Houlden, S. Scholz, O. Andreassen, M. Sharma (Oslo, Norway)

Genetics  ·  Les Muses Terrace, Level 3

1:45pm-3:15pm

A global survey on speech language therapists’ awareness to Huntington’s disease

A. Nuzzi, S. Naor, N. Inbar, T. Gurevich, Y. Manor (Santeramo In Colle, Italy)

Huntington’s Disease  ·  Agora 3 West, Level 3

1:45pm-3:15pm

A homozygous pentanucleotide repeat expansion in cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)

M. Gisatulin, V. Dobricic, Y. Hellenbroich, V. Tadic, A. Münchau, C. Zühlke, M. Bahlo, P. Lockhart, K. Lohmann, C. Helmchen, N. Brüggemann (Lübeck, Germany)

Ataxia  ·  Les Muses, Level 3

1:45pm-3:15pm

A Human Factors Study of the DopaFuse® Delivery System

J. Harmon, S. Japp, C. Long, J. Spiridigliozzi, A. Heller, B. Heller, C. King, P. Plante, R. Draper, T. Lau, E. Heller (Bala Cynwyd, PA, USA)

Clinical Trials, Pharmacology and Treatment  ·  Agora 3 West, Level 3